Genetic architecture of parkinson’s disease in the indian population: Harnessing genetic diversity to address critical gaps in parkinson’s disease research

Roopa Rajan, K. P. Divya, Rukmini Mridula Kandadai, Ravi Yadav, Venkata P. Satagopam, U. K. Madhusoodanan, Pankaj Agarwal, Niraj Kumar, Teresa Ferreira, Hrishikesh Kumar, A. V.Sreeram Prasad, Kuldeep Shetty, Sahil Mehta, Soaham Desai, Suresh Kumar, L. K. Prashanth, Mohit Bhatt, Pettarusp Wadia, Sudha Ramalingam, G. M. WaliSanjay Pandey, Felix Bartusch, Maximilian Hannussek, Jens Krüger, Ashwin Kumar-Sreelatha, Sandeep Grover, Peter Lichtner, Marc Sturm, Jochen Roeper, Volker Busskamp, Giriraj R. Chandak, Jens Schwamborn, Pankaj Seth, Thomas Gasser, Olaf Riess, Vinay Goyal, Pramod Kumar Pal, Rupam Borgohain, Rejko Krüger, Asha Kishore, Manu Sharma*

*Corresponding author for this work

Research output: Contribution to journalArticleResearchpeer-review

20 Citations (Scopus)


Over the past two decades, our understanding of Parkinson’s disease (PD) has been gleaned from the discoveries made in familial and/or sporadic forms of PD in the Caucasian population. The transferability and the clinical utility of genetic discoveries to other ethnically diverse populations are unknown. The Indian population has been under-represented in PD research. The Genetic Architecture of PD in India (GAP-India) project aims to develop one of the largest clinical/genomic bio-bank for PD in India. Specifically, GAP-India project aims to: (1) develop a pan-Indian deeply phenotyped clinical repository of Indian PD patients; (2) perform whole-genome sequencing in 500 PD samples to catalog Indian genetic variability and to develop an Indian PD map for the scientific community; (3) perform a genome-wide association study to identify novel loci for PD and (4) develop a user-friendly web-portal to disseminate results for the scientific community. Our “hub-spoke” model follows an integrative approach to develop a pan-Indian outreach to develop a comprehensive cohort for PD research in India. The alignment of standard operating procedures for recruiting patients and collecting biospecimens with international standards ensures harmonization of data/bio-specimen collection at the beginning and also ensures stringent quality control parameters for sample processing. Data sharing and protection policies follow the guidelines established by local and national authorities.We are currently in the recruitment phase targeting recruitment of 10,200 PD patients and 10,200 healthy volunteers by the end of 2020. GAP-India project after its completion will fill a critical gap that exists in PD research and will contribute a comprehensive genetic catalog of the Indian PD population to identify novel targets for PD.

Original languageEnglish
Article number524
Pages (from-to)1-11
Number of pages11
JournalFrontiers in Neurology
Publication statusPublished - 2020


  • Biobank
  • Common genetic variation
  • Genetic diversity
  • Genome-wide association study
  • Parkinson’s disease


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